Zhao-type Brachydactyly is an autosomal dominant brachydactyly-syndactyly-oligodactyly syndrome caused by mutations of the HOXD13. It is characterized by metaphalangeal shortage of digits 2 and 5 while digits 3 and 4 often show syndactyly. Patients may exhibit a short stature and some other skeletal abnormalities.
Zhao X et al. (2007) Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome.[^]
Ibrahim DM et al. (2013) Distinct global shifts in genomic binding profiles of limb malformation-associated HOXD13 mutations.[^]
OMIM.ORG articleOmim 610713 [^]